What is Central Core Disease
Central Core Disease description. Find out what Central Core Disease is and know more about it.
Central Core Disease is a rare genetic disorder that primarily affects the skeletal muscles. It is classified as a congenital myopathy, meaning it is present from birth. This condition is characterized by muscle weakness and potential joint deformities, which can lead to difficulties with movement and mobility.
The central core refers to specific areas within the muscle fibers that appear abnormal under a microscope. These areas lack the normal structures called "myofibrils" that are responsible for muscle contraction. The absence of myofibrils can impair muscle function and lead to the symptoms associated with Central Core Disease.
Signs and symptoms of Central Core Disease can vary widely among affected individuals. Some may experience mild muscle weakness, while others may have more severe muscle involvement. The disease can also affect muscles involved in breathing, potentially leading to respiratory complications.
Central Core Disease is typically inherited in an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing the condition on to each of their children. Genetic testing can help confirm the diagnosis, and management of the disease involves a multidisciplinary approach to address the specific needs of each individual.
